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Pulmonary cyst

MedGen UID:
107790
Concept ID:
C0546483
Anatomical Abnormality
Synonym: Lung cysts
SNOMED CT: Cyst of lung (275504005); Lung cyst (275504005)
 
HPO: HP:0032445

Definition

A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid. [from HPO]

Conditions with this feature

Hyper-IgE recurrent infection syndrome 1, autosomal dominant
MedGen UID:
1648470
Concept ID:
C4721531
Disease or Syndrome
STAT3 hyper IgE syndrome (STAT3-HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several nonimmune features. This disorder typically manifests in the newborn period with a rash (often diagnosed as eosinophilic pustulosis) that subsequently evolves into an eczematoid dermatitis. Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias. Mucocutaneous candidiasis is common. Nonimmune features may include retained primary teeth, scoliosis, bone fractures following minimal trauma, joint hyperextensibility, and characteristic facial appearance, which typically emerges in adolescence. Vascular abnormalities have been described and include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease, esophageal dysmotility, and spontaneous intestinal perforations (some of which are associated with diverticuli). Fungal infections of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Survival is typically into adulthood, with most individuals now living into or past the sixth decade. Most deaths are associated with gram-negative (Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Lymphomas occur at an increased frequency.
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
MedGen UID:
1648360
Concept ID:
C4748924
Disease or Syndrome
A rare genetic overgrowth syndrome characterised by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumour. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behaviour.
Birt-Hogg-Dube syndrome 2
MedGen UID:
1841312
Concept ID:
C5830676
Disease or Syndrome
Birt-Hogg-Dube syndrome-2 (BHD2) is characterized by lipomatosis and fibrofolliculomas as well as renal cell carcinoma and other cancers (van de Beek et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of BHD, see BHD1 (135150).

Professional guidelines

PubMed

Simchoni N, Vogel TP, Shum AK
Rheum Dis Clin North Am 2023 Nov;49(4):789-804. Epub 2023 Jul 21 doi: 10.1016/j.rdc.2023.06.005. PMID: 37821196Free PMC Article
Frick AE, Ankersmit HJ, Simonitsch-Klupp I, Hoetzenecker K
Interact Cardiovasc Thorac Surg 2022 Jun 1;34(6):1157-1159. doi: 10.1093/icvts/ivab292. PMID: 34718600Free PMC Article
Lee SH, Lee BJ, Jung DY, Kim JH, Sohn DS, Shin JW, Kim JY, Park IW, Choi BW
Korean J Intern Med 2004 Mar;19(1):38-42. doi: 10.3904/kjim.2004.19.1.38. PMID: 15053042Free PMC Article

Recent clinical studies

Etiology

Cabeza Martínez B, Giménez Palleiro A, Mazzini Florindez SP
Radiologia (Engl Ed) 2022 Dec;64 Suppl 3:265-276. doi: 10.1016/j.rxeng.2022.09.005. PMID: 36737165
Bi W, Zhao S, Wu C, Gao J, Zhao S, Yang S, Deng Y, Nie P, Yu X, Deng H, Zang X, Ma X, Han J, Asuquo I, Wang X, Xue X
J Surg Oncol 2021 Apr;123(5):1336-1344. Epub 2021 Feb 1 doi: 10.1002/jso.26403. PMID: 33523526
Kennedy JC, Khabibullin D, Henske EP
Semin Cell Dev Biol 2016 Apr;52:47-52. Epub 2016 Feb 10 doi: 10.1016/j.semcdb.2016.02.014. PMID: 26877139
Chowdhury MM, Chakraborty S
Semin Pediatr Surg 2015 Aug;24(4):168-75. Epub 2015 Feb 27 doi: 10.1053/j.sempedsurg.2015.02.001. PMID: 26051049
Kabbani M, Haider N, Abu-Sulaiman R
Cardiol Young 2004 Aug;14(4):447-9. doi: 10.1017/S1047951104004160. PMID: 15680054

Diagnosis

Simchoni N, Vogel TP, Shum AK
Rheum Dis Clin North Am 2023 Nov;49(4):789-804. Epub 2023 Jul 21 doi: 10.1016/j.rdc.2023.06.005. PMID: 37821196Free PMC Article
Cabeza Martínez B, Giménez Palleiro A, Mazzini Florindez SP
Radiologia (Engl Ed) 2022 Dec;64 Suppl 3:265-276. doi: 10.1016/j.rxeng.2022.09.005. PMID: 36737165
Chowdhury MM, Chakraborty S
Semin Pediatr Surg 2015 Aug;24(4):168-75. Epub 2015 Feb 27 doi: 10.1053/j.sempedsurg.2015.02.001. PMID: 26051049
Gupta N, Seyama K, McCormack FX
Fam Cancer 2013 Sep;12(3):387-96. doi: 10.1007/s10689-013-9660-9. PMID: 23715758Free PMC Article
Uriarte C, Pomares N, Martin M, Conde A, Alonso N, Bueno MG
Am J Trop Med Hyg 1991 Apr;44(4):420-3. doi: 10.4269/ajtmh.1991.44.420. PMID: 2042707

Therapy

Norton MN, Weaver LK
Undersea Hyperb Med 2022 Third Quarter;49(3):289-293. PMID: 36001561
Mansbridge C, Glover S, Woo E, Singh N
J Travel Med 2021 Aug 27;28(6) doi: 10.1093/jtm/taab007. PMID: 33480431
Kawamoto N, Okita R, Hayashi M, Furukawa M, Inokawa H, Okabe K
Thorac Cancer 2020 Jun;11(6):1712-1715. Epub 2020 Apr 4 doi: 10.1111/1759-7714.13421. PMID: 32246895Free PMC Article
Wang X, Tao YX, Zhang M, Wu WB, Yang DP, Wang M
Medicine (Baltimore) 2018 Oct;97(43):e12950. doi: 10.1097/MD.0000000000012950. PMID: 30412112Free PMC Article
Fisher J, Shargall Y, Krajden S, Moid F, Hoffstein V
Can Respir J 2011 Sep-Oct;18(5):258-60. doi: 10.1155/2011/197642. PMID: 21969925Free PMC Article

Prognosis

Bi W, Zhao S, Wu C, Gao J, Zhao S, Yang S, Deng Y, Nie P, Yu X, Deng H, Zang X, Ma X, Han J, Asuquo I, Wang X, Xue X
J Surg Oncol 2021 Apr;123(5):1336-1344. Epub 2021 Feb 1 doi: 10.1002/jso.26403. PMID: 33523526
Kawamoto N, Okita R, Hayashi M, Furukawa M, Inokawa H, Okabe K
Thorac Cancer 2020 Jun;11(6):1712-1715. Epub 2020 Apr 4 doi: 10.1111/1759-7714.13421. PMID: 32246895Free PMC Article
Park HJ, Chae EJ, Do KH, Lee SM, Song JW
AJR Am J Roentgenol 2019 Apr;212(4):766-772. Epub 2019 Jan 23 doi: 10.2214/AJR.18.20232. PMID: 30673341
Wang X, Tao YX, Zhang M, Wu WB, Yang DP, Wang M
Medicine (Baltimore) 2018 Oct;97(43):e12950. doi: 10.1097/MD.0000000000012950. PMID: 30412112Free PMC Article
Kabbani M, Haider N, Abu-Sulaiman R
Cardiol Young 2004 Aug;14(4):447-9. doi: 10.1017/S1047951104004160. PMID: 15680054

Clinical prediction guides

Bi W, Zhao S, Wu C, Gao J, Zhao S, Yang S, Deng Y, Nie P, Yu X, Deng H, Zang X, Ma X, Han J, Asuquo I, Wang X, Xue X
J Surg Oncol 2021 Apr;123(5):1336-1344. Epub 2021 Feb 1 doi: 10.1002/jso.26403. PMID: 33523526
Kawamoto N, Okita R, Hayashi M, Furukawa M, Inokawa H, Okabe K
Thorac Cancer 2020 Jun;11(6):1712-1715. Epub 2020 Apr 4 doi: 10.1111/1759-7714.13421. PMID: 32246895Free PMC Article
Park HJ, Chae EJ, Do KH, Lee SM, Song JW
AJR Am J Roentgenol 2019 Apr;212(4):766-772. Epub 2019 Jan 23 doi: 10.2214/AJR.18.20232. PMID: 30673341
Fisher J, Shargall Y, Krajden S, Moid F, Hoffstein V
Can Respir J 2011 Sep-Oct;18(5):258-60. doi: 10.1155/2011/197642. PMID: 21969925Free PMC Article
Kir A, Baran E
Thorac Cardiovasc Surg 1995 Feb;43(1):62-4. doi: 10.1055/s-2007-1013772. PMID: 7540333

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